AsianScientist (Sep. 10, 2014) – Australian scientists have helped to identify genes associated with glaucoma, the world’s leading cause of irreversible blindness. The results, based on two different studies with over 35,000 participants, have been published in Nature Genetics.
“One study has uncovered three genetic markers linked to open angle glaucoma, and another has identified four genes associated with increased intraolcular pressure (IOP),” said Associate Professor MacGregor of the QIMR Berghofer Medical Research Institute’s Statistical Genetics Laboratory. Prof. MacGregor is an author in both studies.
Primary open-angle glaucoma (POAG) is the most common form of glaucoma, and a major cause of irreversible blindness around the world. Meanwhile, elevated IOP is an important risk factor in developing glaucoma, with many cases remaining undiagnosed until irreversible loss of vision has occurred.
The first study involved a genome-wide association analysis in an Australian discovery cohort with over 3000 patients. Meta analysis identified three new genetic regions associated with development of POAG. These loci were also seen in American cohorts used for cross-analysis. The researchers then used real-time polymerase chain reaction and immunolabeling to demonstrate the expression of these genes within different regions of the human eye, including the retina and optic nerve.
In the second study, researchers studied 18 population cohorts from the International Glaucoma Genetics Consortium (IGGC), comprising over 35,000 patients. Here, they were able to confirm confirm genetic association of known loci for both IOP and POAG, and identify four new regions that are linked to IOP. Separate cross-analysis with POAG cohorts indicated that the four new IOP loci were also connected to POAG.
The researchers hope their findings will enable earlier diagnosis, and the development of treatments to delay the progression of glaucoma and prevent blindness.
“As the population ages, glaucoma will become increasingly prevalent in Australia, and these findings will play an important role in reducing that disease burden,” Prof. MacGregor said.
The articles can be found at:
Hysi et al. (2014) Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma and
Gharahkhani et al. (2014) Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma
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Copyright: University of Melbourne; Photo: Dan Foy/Flickr/CC.
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